MUTATIONS AND POLYMORPHISMS OF EPIDERMAL GROWTH FACTOR RECEPTOR

摘要

This invention relates generally to the analytical testing of tissue samples in vitro, and more particularly to aspects of genetic polymorphisms and mutations of the epidermal growth factor receptor. The invention provides new EGFR mutations and SNPs, useful in the diagnosis and treatment of subjects in need thereof. Accordingly, the various aspects of the present invention relate to polynucleotides encoding the EGFR mutations of the invention, expression vectors encoding the EGFR mutant polypeptides of the invention and organisms that express the EGFR mutant and polymorphic polynucleotides and/or EGFR mutant/polymorphic polypeptides of the invention. The various aspects of the present invention further relate to diagnostic/theranostic methods and kits that use the EGFR mutations and polymorphisms of the invention to identify individuals predisposed to disease or to classify individuals with regard to drug responsiveness, side effects, or optimal drug dose.